Canonical Allele Identifier: CA2695227071

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107696del , CM000679.2:g.80107696del	GRCh38
NC_000017.10:g.78081495del , CM000679.1:g.78081495del	GRCh37
NC_000017.9:g.75696090del	NCBI36
NG_009822.1:g.11141del , LRG_673:g.11141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.832del	ENSP00000460543.2:p.Leu278CysfsTer?
ENST00000572080.2:c.832del	ENSP00000459972.2:p.Leu278CysfsTer?
ENST00000577106.6:c.832del	ENSP00000458306.2:p.Leu278CysfsTer?
ENST00000302262.8:c.832del MANE Select	ENSP00000305692.3:p.Leu278CysfsTer?
ENST00000302262.7:c.832del	ENSP00000305692.3:p.Leu278CysfsTer?
ENST00000390015.7:c.832del	ENSP00000374665.3:p.Leu278CysfsTer?
ENST00000570803.5:c.832del	ENSP00000460543.1:p.Leu278CysfsTer?
NM_000152.3:c.832del , LRG_673t1:c.832del	NP_000143.2:p.Leu278CysfsTer?
NM_001079803.1:c.832del	NP_001073271.1:p.Leu278CysfsTer?
NM_001079804.1:c.832del	NP_001073272.1:p.Leu278CysfsTer?
XM_005257193.1:c.832del	XP_005257250.1:p.Leu278CysfsTer?
XM_005257194.3:c.832del	XP_005257251.1:p.Leu278CysfsTer?
NM_000152.4:c.832del	NP_000143.2:p.Leu278CysfsTer?
NM_001079803.2:c.832del	NP_001073271.1:p.Leu278CysfsTer?
NM_001079804.2:c.832del	NP_001073272.1:p.Leu278CysfsTer?
XM_005257193.2:c.832del	XP_005257250.1:p.Leu278CysfsTer?
XM_005257194.4:c.832del	XP_005257251.1:p.Leu278CysfsTer?
NM_000152.5:c.832del MANE Select	NP_000143.2:p.Leu278CysfsTer?
NM_001079803.3:c.832del	NP_001073271.1:p.Leu278CysfsTer?
NM_001079804.3:c.832del	NP_001073272.1:p.Leu278CysfsTer?